I took Audrey to the pediatrician again on Friday to get some medicine for thrush. We saw a new, to us, doctor this time and she went ahead and evaluated her from head to toe since she had never met Audrey. During her exam she asked me about Audrey's blue eyes, not the color, but the blue sclera (the whites of her eyes).
She asked if we had a history of brittle bone disease (osteogenesis imperfecta), which we don't. She asked me a series of questions about Audrey's medical history, birth and development. She explained that the sclera is made up of collagen and should be nice and thick and white at this age but Audrey's are very thin and almost translucent which is what gives it that blue appearance.
Blue sclera can be an indicator of connective tissue disorder and is a prominent feature of brittle bone disease. She ended up referring us to see a pediatric opthamologist to further investigate the issue.
We were able to get in to the specialist first thing this morning. She dilated Audrey's eyes to check everything out. Fortunately, just by looking at the color of the sclera (she said it's not an extreme blue as what she has seen) and how healthy Audrey is otherwise, her gut says it's just something she was born with and may grow out of. Unfortunately, she said it's really too soon to tell. She wasn't alarmed enough by what she saw today to do any further investigation as to whether or not she has an underlying connective tissue disorder (brittle bone or any other). So she said to wait and see and watch her development. If her bones start forming in an unusual way, especially once she is walking, or she starts having frequent fractures or is behind developmentally then it would warrant further investigation.
She did say she was concerned about the size of her optic nerves. They are very large for her age and that combined with the blue sclera puts her at a higher risk for glaucoma, which we do have a family history of. Her pressure was fine today but she wants to see her back every 6 months to re-check it. She has a lot of astigmatisms as well but she may grow out of those.
So basically we are to wait and see what happens but she wasn't too terribly alarmed by what she saw in Audrey today to think she is anything other than a healthy baby girl who was just born with blue sclera and large optic nerves.
Only time will tell.